Literature DB >> 29031079

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.

Fernanda Fortunato1, Marcella Neri2, Alessandro Geroldi3, Emilia Bellone4, Domenico De Grandis5, Alessandra Ferlini6, Francesca Gualandi7.   

Abstract

Entities:  

Keywords:  CMT2- dHMN II; HSPB1/HSP27; Hereditary neuropathy

Mesh:

Substances:

Year:  2017        PMID: 29031079     DOI: 10.1016/j.clineuro.2017.09.012

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN: 0303-8467            Impact factor:   1.876


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  3 in total

Review 1.  Mutations in HspB1 and hereditary neuropathies.

Authors:  Lydia K Muranova; Maria V Sudnitsyna; Sergei V Strelkov; Nikolai B Gusev
Journal:  Cell Stress Chaperones       Date:  2020-04-16       Impact factor: 3.667

Review 2.  Small heat shock proteins in neurodegenerative diseases.

Authors:  Leen Vendredy; Elias Adriaenssens; Vincent Timmerman
Journal:  Cell Stress Chaperones       Date:  2020-04-22       Impact factor: 3.667

3.  Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Authors:  Elena Abati; Stefania Magri; Megi Meneri; Giulia Manenti; Daniele Velardo; Francesca Balistreri; Chiara Pisciotta; Paola Saveri; Nereo Bresolin; Giacomo Pietro Comi; Dario Ronchi; Davide Pareyson; Franco Taroni; Stefania Corti
Journal:  Ann Clin Transl Neurol       Date:  2021-05-04       Impact factor: 4.511

  3 in total

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